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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
DCTN1 - Dynactin Subunit 1
Alias:
P135
DP-150
DAP-150
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码动力蛋白的最大亚基,这是一个由10个大小在22到150kD之间的亚基组成的大分子复合物。动力蛋白结合微管和细胞质动力蛋白。动力蛋白涉及多种细胞功能,包括ER到高尔基体的运输,溶酶体和内体向心运动,纺锤体形成,染色体运动,核定位和轴突生成。这个亚基通过与其直接结合动力蛋白的域与动力蛋白中间链相互作用,并通过其N端高度保守的甘氨酸丰富的细胞骨架关联蛋白(CAP-Gly)结构域与微管结合。这个基因的可变剪接导致多个转录变异体,编码不同的异构体。这个基因的突变导致远端遗传性运动神经元病VIIB型(HMN7B),也称为远端脊髓和球部肌营养不良(dSBMA)。[由RefSeq,2008年10月提供]
Related ID:
NCBI:1639
ENSEMBL:ENSG00000204843
HGNC:2711
UNIPROT:Q14203
OMIM:601143
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
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Reference
1639
8
32
30712 bp
141.69
1070
5
5
52
DCTN1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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